A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9483n54



Internal ID22777378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:467509..472727hg38UCSC Ensembl
chr5:467624..472842hg19UCSC Ensembl
chr5:520624..525842hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385219
hg195219
hg185219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596652, nsv596663, nsv596637, nsv596638
Samples
Known GenesPP7080
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9483n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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